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https://www.readbyqxmd.com/read/28597365/a-novel-pathogenic-frameshift-variant-of-cd3e-gene-in-two-t-b-nk-scid-patients-from-turkey
#1
Sinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, Serdar Nepesov, Osman Yesilbas, Meltem Kilercik, Nihan Burtecene, Suzan Cinar, Yildiz Camcioglu, Ugur Ozbek, Muge Sayitoglu
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput technology, and has already been proven to be beneficial in medical diagnostics. In this study, a targeted NGS panel was developed to identify the genetic variations of SCID by using SmartChip-TE technology, and a novel pathogenic frameshift variant was found in the CD3E gene...
June 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28591258/immune-development-in-hiv-exposed-uninfected-children-born-to-hiv-infected-women
#2
Maristela Miyamoto, Aída F T B Gouvêa, Erika Ono, Regina Célia M Succi, Savita Pahwa, Maria Isabel de Moraes-Pinto
Immunological and clinical findings suggestive of some immune dysfunction have been reported among HIV-exposed uninfected (HEU) children and adolescents. Whether these defects are persistent or transitory is still unknown. HEU pediatric population at birth, 12 months, 6-12 years were evaluated in comparison to healthy age-matched HIV-unexposed controls. Plasma levels of LPS, sCD14, cytokines, lymphocyte immunophenotyping and T-cell receptor excision circles (TREC) were assessed. HEU and controls had similar LPS levels, which remained low from birth to 6-12 years; for plasma sCD14, IL-2, IL-6, IL-7, IL-10, IL-12p70, IL-13, IL-17, IFN-γ, TNF-α, G-CSF, GM-CSF and MCP-1, which increased from birth to 12 months and then decreased at 6-12 years; and for TREC/106 PBMC at birth in HEU and controls...
June 1, 2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28554917/optimisation-and-validation-of-a-remote-monitoring-system-onco-trec-for-home-based-management-of-oral-anticancer-therapies-an-italian-multicentre-feasibility-study
#3
Alessandro Passardi, Mimma Rizzo, Francesca Maines, Carlo Tondini, Alberto Zambelli, Roberto Vespignani, Daniele Andreis, Ilaria Massa, Marco Dianti, Stefano Forti, Enrico Maria Piras, Claudio Eccher
INTRODUCTION: Despite the growing number of oral agents available for cancer treatment, their efficacy may be reduced due to the lack of adherence, inappropriate adverse event self-management and arbitrary dose adjustment. The management of anticancer therapies could exponentially benefit from the introduction of mobile health technologies in a highly integrated electronic oncology system. METHODS AND ANALYSIS: We plan to customise and fine-tune an existing monitoring TreC platform used in different chronic diseases in the oncology setting...
May 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28544224/quantification-of-specific-t-and-b-cells-immunological-markers-in-children-with-chronic-and-transient-itp
#4
Sarina Levy-Mendelovich, Atar Lev, Shraga Aviner, Nurit Rosenberg, Caim Kaplinsky, Nechama Sharon, Hagit Miskin, Aviya Dvir, Gili Kenet, Irit Eisen Schushan, Raz Somech
BACKGROUND: Immune thrombocytopenic purpura (ITP) is characterized by a transient (nonchronic) or permanent (chronic) decline in the number of platelets. Predicting the course of ITP, at the time of diagnosis, is of importance. Here we studied at diagnosis, clinical and immunological parameters in order to distinguish between different courses. The latter included the measure of new B and T cells using quantification of kappa-deleting recombination excision circles (KRECs) and T-cell receptor excision circles (TRECs), respectively...
May 22, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28538498/ghrelin-protects-the-thymic-epithelium-from-conditioning-regimen-induced-damage-and-promotes-the-restoration-of-cd4-t-cells-in-mice-after-bone-marrow-transplantation
#5
Jingxia Xu, Junyu S Zhu, Xianyu Tian, Qixin Sun, Jianhui Xu, Yuxian Huang, Yingzhi He, Zhiwei Huang, Bingyi Wu
BACKGROUND: The delay in immune reconstitution after hematopoietic stem cell transplantation (HSCT), especially a delay in central immune reconstitution, leads to opportunistic infections and disease relapse after transplantation and affects the long-term outcome of HSCT. This delay is mainly attributable to thymic damage after myeloablative chemotherapy and radiotherapy METHODS: We established a model of allogeneic bone marrow transplantation (BMT) in mice and administered ghrelin (GRL) 7 days before the conditioning regimen or the day after BMT...
May 24, 2017: Transplantation
https://www.readbyqxmd.com/read/28500641/t-and-b-cell-clonal-expansion-in-ras-associated-lymphoproliferative-disease-rald-as-revealed-by-next-generation-sequencing
#6
Sarina Levy-Mendelovich, Atar Lev, Erez Rechavi, Ortal Barel, Hana Golan, Bela Bielorai, Yoram Neumann, Amos J Simon, Raz Somech
Ras associated lymphoproliferative disease (RALD) is an autoimmune lymphoproliferative syndrome (ALPS)-like disease caused by mutations in KRAS or NRAS. The immunological phenotype and pathogenesis of RALD have yet to be extensively studied. Here we report a thorough immunological investigation of a RALD patient with a somatic KRAS mutation. Patient lymphocytes were analyzed for phenotype, immunoglobulin levels and T cell proliferation capacity. T and B cell receptor excision circles (TREC and KREC, respectively), markers of naïve T and B cell production, were serially measured over three years...
May 12, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#7
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
May 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28487086/an-evaluation-of-the-trec-assay-with-regard-to-the-integration-of-scid-screening-into-the-dutch-newborn-screening-program
#8
Maartje Blom, Ingrid Pico-Knijnenburg, Marja Sijne-van Veen, Anita Boelen, Robbert G M Bredius, Mirjam van der Burg, Peter C J I Schielen
Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33)...
July 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28455199/upper-body-compression-garment-physiological-effects-while-cycling-in-a-hot-environment
#9
Iker Leoz-Abaurrea, Roberto Aguado-Jiménez
OBJECTIVE: The purpose of the present study was to investigate the effects of an upper body compression garment (UBCG) on physiologic and perceptual responses while cycling in a hot environment. METHODS: Twenty recreational road cyclists were pair-matched for age, anthropometric data, and fitness level (V̇O2max) and randomly assigned to a control (CON) group (n=10) of cyclists who wore a conventional t-shirt or to a group (n=10) of cyclists who wore UBCG. Test session consisted of cycling at a fixed load (~50% V̇O2max) for 30 minutes at an ambient temperature of ~40ºC (39...
April 25, 2017: Wilderness & Environmental Medicine
https://www.readbyqxmd.com/read/28408361/design-of-a-mobile-app-for-nutrition-education-trec-lifestyle-and-formative-evaluation-with-families-of-overweight-children
#10
Silvia Gabrielli, Marco Dianti, Rosa Maimone, Marta Betta, Lorena Filippi, Monica Ghezzi, Stefano Forti
BACKGROUND: Nutrition and diet apps represent today a popular area of mobile health (mHealth), offering the possibility of delivering behavior change (BC) interventions for healthy eating and weight management in a scalable and cost-effective way. However, if commercial apps for pediatric weight management fail to retain users because of a lack of theoretical background and evidence-based content, mHealth apps that are more evidence-based are found less engaging and popular among consumers...
April 13, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28381232/detection-of-newly-produced-t-and-b-lymphocytes-by-digital-pcr-in-blood-stored-dry-on-nylon-flocked-swabs
#11
Marion Vaglio Tessitore, Alessandra Sottini, Aldo M Roccaro, Claudia Ghidini, Simona Bernardi, Giovanni Martellosio, Federico Serana, Luisa Imberti
BACKGROUND: A normal number of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) is considered a biomarker for adequate new T- and B-cell production. In newborns, detection of TRECs and KRECs by real time PCR from dried blood spotted on filter paper is used for the screening of severe immunodeficiency. In adults, elderly and during diseases, where the number of TRECs is lower than in newborns and children, a large amount of DNA and a sensitive method of amplification are necessary to identify newly produced lymphocytes...
April 5, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28373873/novel-senescent-regulatory-t-cell-subset-with-impaired-suppressive-function-in-rheumatoid-arthritis
#12
Johannes Fessler, Andrea Raicht, Rusmir Husic, Anja Ficjan, Christine Schwarz, Christina Duftner, Wolfgang Schwinger, Winfried B Graninger, Martin H Stradner, Christian Dejaco
OBJECTIVE: Premature senescence of lymphocytes is a hallmark of inflammatory rheumatic diseases such as rheumatoid arthritis (RA). Early T-cell aging affects conventional T-cells but is presumably not limited to this cell population; rather it might also occur in the regulatory T-cells (Tregs) compartment. In RA, Tregs fail to halt aberrant immune reactions and disease progression. Whether this is associated with early Treg senescence leading to phenotypic and functional changes of this subset is elusive so far...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28229174/characterization-of-the-specific-interaction-between-the-dna-aptamer-sgc8c-and-protein-tyrosine-kinase-7-receptors-at-the-surface-of-t-cells-by-biosensing-afm
#13
Michael Leitner, Alexandra Poturnayova, Constanze Lamprecht, Sabine Weich, Maja Snejdarkova, Ivana Karpisova, Tibor Hianik, Andreas Ebner
We studied the interaction of the specific DNA aptamer sgc8c immobilized at the AFM tip with its corresponding receptor, the protein tyrosine kinase-7 (PTK7) embedded in the membrane of acute lymphoblastic leukemia (ALL) cells (Jurkat T-cells). Performing single molecule force spectroscopy (SMFS) experiments, we showed that the aptamer sgc8c bound with high probability (38.3 ± 7.48%) and high specificity to PTK7, as demonstrated by receptor blocking experiments and through comparison with the binding behavior of a nonspecific aptamer...
April 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28207294/validity-of-core-temperature-measurements-at-3-rectal-depths-during-rest-exercise-cold-water-immersion-and-recovery
#14
Kevin C Miller, Lexie E Hughes, Blaine C Long, William M Adams, Douglas J Casa
CONTEXT:   No evidence-based recommendation exists regarding how far clinicians should insert a rectal thermistor to obtain the most valid estimate of core temperature. Knowing the validity of temperatures at different rectal depths has implications for exertional heat-stroke (EHS) management. OBJECTIVE:   To determine whether rectal temperature (Trec) taken at 4 cm, 10 cm, or 15 cm from the anal sphincter provides the most valid estimate of core temperature (as determined by esophageal temperature [Teso]) during similar stressors an athlete with EHS may experience...
April 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28093005/cardiac-and-respiratory-effects-of-deep-regional-hyperthermia-using-an-8-mhz-radiofrequency-capacitive-device-on-patients-with-cancer
#15
Rieko Izukura, Hajime Imada, Nobuko Hashiguchi, Hiroyuki Sawatari, Takayuki Ohguri, Mami Miyazono, Shin Ohta, Chizuko Takakura, Keiko Yamasaki, Chie Magota, Kanae Fujita, Hiromi Kuroda, Hideki Hirata, Tomoko Ohkusa, Akiko Chishaki
PURPOSE: Hyperthermia (HT), an adjuvant therapy for variable cancers, may cause physiological changes in the patients, which may lead to cardiovascular problems. Among various HT treatments, the physiological effects of deep regional HT are still unclear. We examined the physiological alterations throughout deep regional HT to improve the HT safety. MATERIALS AND METHODS: Thirty-one patients (age: 61±12 years) with cancer received HT in the thoracic or upper abdominal regions using an 8-MHz radiofrequency-capacitive-device for 50 min...
January 16, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28069045/improving-nursing-home-care-through-feedback-on-performance-data-inform-protocol-for-a-cluster-randomized-trial
#16
Matthias Hoben, Peter G Norton, Liane R Ginsburg, Ruth A Anderson, Greta G Cummings, Holly J Lanham, Janet E Squires, Deanne Taylor, Adrian S Wagg, Carole A Estabrooks
BACKGROUND: Audit and feedback is effective in improving the quality of care. However, methods and results of international studies are heterogeneous, and studies have been criticized for a lack of systematic use of theory. In TREC (Translating Research in Elder Care), a longitudinal health services research program, we collect comprehensive data from care providers and residents in Canadian nursing homes to improve quality of care and life of residents, and quality of worklife of caregivers...
January 10, 2017: Trials
https://www.readbyqxmd.com/read/28065337/profound-t-cell-lymphopenia-associated-with-prenatal-exposure-to-purine-antagonists-detected-by-trec-newborn-screening
#17
Caroline Y Kuo, Maria I Garcia-Lloret, Patricia Slev, John F Bohnsack, Karin Chen
No abstract text is available yet for this article.
January 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28056841/thymus-activity-measured-by-t-cell-receptor-excision-circles-in-patients-with-different-severities-of-respiratory-syncytial-virus-infection
#18
Kiran Aftab Gul, Tonje Sonerud, Hans O Fjærli, Britt Nakstad, Tore Gunnar Abrahamsen, Christopher S Inchley
BACKGROUND: Respiratory syncytial virus (RSV) infection is an important cause of hospitalization in previously healthy infants. Immunological mechanisms predisposing infants to severe disease are poorly understood. Early biomarkers for disease severity may assist clinical decisions. We investigated T-cell receptor excision circles (TREC), episomal DNA made during thymic T-cell receptor rearrangement, and a marker for thymus activity, both during disease and in neonatal screening cards as a risk factor for RSV disease severity...
January 5, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28010810/conventional-and-novel-body-temperature-measurement-during-rest-and-exercise-induced-hyperthermia
#19
COMPARATIVE STUDY
Colin Towey, Chris Easton, Robert Simpson, Charles Pedlar
Despite technological advances in thermal sensory equipment, few core temperature (TCORE) measurement techniques have met the established validity criteria in exercise science. Additionally, there is debate as to what method serves as the most practically viable, yet upholds the proposed measurement accuracy. This study assessed the accuracy of current and novel TCORE measurement techniques in comparison to rectal temperature (TREC) as a reference standard. Fifteen well-trained subjects (11 male, 4 female) completed 60min of exercise at an intensity equating to the lactate threshold; measured via a discontinuous exercise test...
January 2017: Journal of Thermal Biology
https://www.readbyqxmd.com/read/27998477/advanced-portrayal-of-smil-coating-by-allying-cze-performance-with-in-capillary-topographic-and-charge-related-surface-characterization
#20
Lorenz G Stock, Michael Leitner, Lukas Traxler, Klaus Bonazza, Laurent Leclercq, Hervé Cottet, Gernot Friedbacher, Andreas Ebner, Hanno Stutz
A successive multiple ionic polymer layer (SMIL) coating composed of four layers improved the capillary electrophoretic separation of a recombinant major birch pollen allergen and closely related variants when poly(acrylamide-co-2-acrylamido-2-methyl-1-propansulfonate) (55% PAMAMPS) replaced dextran sulfate as terminal SMIL layer. 55% PAMAMPS decelerated the electroosmotic flow (EOF) due to its lower charge density. Atomic force microscopy (AFM) was used to investigate SMIL properties directly on the inner capillary surface and to relate them to EOF measurements and results of associated CZE separations of a mixture of model proteins and peptides that were performed in the same capillary...
January 25, 2017: Analytica Chimica Acta
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